Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R1319Q
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ATP7B

NM_000053.4:p.R1319Q

Associated Papers

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Klippel C et al.

International Journal of Neonatal Screening, 2025

39846592 (PubMed )
Supplement: IJNS-11-00006-s001.zip › IJNS-3344349-supplementary.pdf

Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.

Lao TD et al.

Biomarker Insights, 2024

Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.

Huang C et al.

Journal of Clinical Laboratory Analysis, 2022

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